Canonical Allele Identifier: CA2840111918
Gene: KCNH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948573dup , CM000669.2:g.150948573dup GRCh38
NC_000007.13:g.150645661dup , CM000669.1:g.150645661dup GRCh37
NC_000007.12:g.150276594dup NCBI36
NG_008916.1:g.34356dup , LRG_288:g.34356dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000684241.1:n.3426-28dup
ENST00000262186.10:c.2593-28dup MANE Select ENSP00000262186.5:n.2593-28dup
ENST00000330883.9:c.1573-28dup ENSP00000328531.4:n.1573-28dup
ENST00000262186.9:c.2593-28dup ENSP00000262186.5:n.2593-28dup
ENST00000330883.8:c.1573-28dup ENSP00000328531.4:n.1573-28dup
NM_000238.3:c.2593-28dup , LRG_288t1:c.2593-28dup NP_000229.1:n.2593-28dup
NM_172057.2:c.1573-28dup , LRG_288t3:c.1573-28dup NP_742054.1:n.1573-28dup
XM_011516185.1:c.2293-28dup XP_011514487.1:n.2293-28dup
XM_011516186.1:c.2593-28dup XP_011514488.1:n.2593-28dup
XM_011516185.2:c.2293-28dup XP_011514487.1:n.2293-28dup
XM_011516186.3:c.2593-28dup XP_011514488.1:n.2593-28dup
XM_017012195.1:c.2443-28dup XP_016867684.1:n.2443-28dup
XM_017012196.1:c.2416-28dup XP_016867685.1:n.2416-28dup
NM_000238.4:c.2593-28dup MANE Select NP_000229.1:n.2593-28dup
NM_172057.3:c.1573-28dup NP_742054.1:n.1573-28dup